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Article

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.

Neuron - 8 Mar 2012

Jeworutzki Elena, López-Hernández Tania, Capdevila-Nortes Xavier, Sirisi Sònia, Bengtsson Luiza, Montolio Marisol, Zifarelli Giovanni, Arnedo Tanit, Müller Catrin S, Schulte Uwe, Nunes Virginia, Martínez Albert, Jentsch Thomas J, Gasull Xavier, Pusch Michael, Estévez Raúl

Abstract excerpt

Ion fluxes mediated by glial cells are required for several physiological processes such as fluid homeostasis or the maintenance of low extracellular potassium during high neuronal activity. In mice, the disruption of the Cl(-) channel ClC-2 causes fluid accumulation leading to myelin vacuolation. A similar vacuolation phenotype is detected in humans affected with megalencephalic leukoencephalopathy with...

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Source

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Identifiers

PMID: 22405205
DOI: 10.1016/j.neuron.2011.12.039
PMCID: PMC3334819

Genes

MLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.PMID 22405205Read ↗

Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.Semantic proximity Read ↗

Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.Semantic proximity Read ↗

Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy.Semantic proximity Read ↗

Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins.Semantic proximity Read ↗

Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit.Semantic proximity Read ↗

GlialCAM, a CLC-2 Cl(-) channel subunit, activates the slow gate of CLC chloride channels.Semantic proximity Read ↗

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.Semantic proximity Read ↗

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.Semantic proximity Read ↗

Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes.Semantic proximity Read ↗

MLC1: A New Calcium-regulated Protein Conferring Calcium Dependence to Volume-regulated Anion Channels (VRAC) in Astrocytes.Semantic proximity Read ↗

Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.Semantic proximity Read ↗

Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes.Semantic proximity Read ↗

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